Abstract

Deoxyribonucleic acid (DNA) is the self-replicating hereditary material that provides a blueprint which, in collaboration with environmental influences, produces a structural and functional phenotype. As DNA coordinates and directs differentiation, growth, survival, and reproduction, it is responsible for life and the continuation of our species. Genome integrity requires the maintenance of DNA stability for the correct preservation of genetic information. This is facilitated by accurate DNA replication and precise DNA repair. DNA damage may arise from a wide range of both endogenous and exogenous sources but may be repaired through highly specific mechanisms. The most common mechanisms include mismatch, base excision, nucleotide excision, and double-strand DNA (dsDNA) break repair. Concurrent with regulation of the cell cycle, these mechanisms are precisely executed to ensure full restoration of damaged DNA. Failure or inaccuracy in DNA repair contributes to genome instability and loss of genetic information which may lead to mutations resulting in disease or loss of life. A detailed understanding of the mechanisms of DNA damage and its repair provides insight into disease pathogeneses and may facilitate diagnosis and the development of targeted therapies.

Highlights

  • Deoxyribonucleic acid (DNA) is the hereditary material found in humans, other eukaryotes, and prokaryotes that carries instructions for structure and function [1]

  • Nucleotide-excision repair controls the removal of DNA adducts from DNA by excising an oligonucleotide containing the lesion to replace it with newly synthesised DNA [63]

  • DNA is responsible for carrying hereditary information across generations; it accomplishes this by controlling the production and function of proteins

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Summary

Deoxyribonucleic Acid as Hereditary Material

Deoxyribonucleic acid (DNA) is the hereditary material found in humans, other eukaryotes, and prokaryotes that carries instructions for structure and function [1]. Acting as a blueprint in collaboration with environment cues, DNA gives rise to phenotype. Genomic stability is maintained by the accurate replication and adequate repair of DNA; failure of these crucial processes results in DNA damage and the inability to ensure continuation of a given species [3]. The occurrence of DNA damage is more likely to occur at genomic loci which have increased transcriptional activity [4]. Failure to maintain DNA integrity as a result of inadequate repair leads to mutations inducing structural, biochemical, and/or functional aberrations which are the cause of several diseases [2]

Cell Growth
Cell Cycle Control and Checkpoints
Disruption of Genome Integrity
Endogenous Deoxyribonucleic Acid Damage
Exogenous Deoxyribonucleic Acid Damage
Deoxyribonucleic Acid Damage Response Pathway
Preservation of Genome Integrity
Mismatch Repair
10. Base-Excision Repair
11. Nucleotide-Excision Repair
12. Double-Strand Deoxyribonucleic Acid Break Repair
13. Pathophysiology of Deoxyribonucleic Acid Repair Failure
Findings
15. Conclusions
Full Text
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